两名患有艾伦-赫恩登-达德利综合征的日本患者中的溶质载体家族16成员2（SLC16A2）突变

Yamamoto Toshiyuki, Shimojima Keiko, Umemura Ayako, Uematsu Mitsugu, Nakayama Tojo, Inoue Ken

Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.

Department of Pediatrics, Central Hospital, Aichi Human Service Center , Kasugai, Japan.

Hum Genome Var. 2014 Oct 9;1:14010. doi: 10.1038/hgv.2014.10. eCollection 2014.

Allan-Herndon-Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is the underlying cause of this disorder. We identified a novel (P537del) and a recurrent (A150V) SLC16A2 mutation in Japanese AHDS patients from two different families. A150V co-segregated with S33P. Both patients showed similar clinical features including severe neurological features and delayed myelination. Thyroid function showed a common finding of elevated T3 levels. No clear genotype-phenotype correlation was observed in patients with SLC16A2 alterations.

艾伦-赫恩登-达德利综合征（AHDS）是一种神经发育障碍，表现为智力残疾和运动发育迟缓。SLC16A2突变导致的甲状腺激素转运体功能障碍是该疾病的根本原因。我们在来自两个不同家族的日本AHDS患者中鉴定出一种新的（P537del）和一种复发性的（A150V）SLC16A2突变。A150V与S33P共分离。两名患者均表现出相似的临床特征，包括严重的神经学特征和髓鞘形成延迟。甲状腺功能表现出T3水平升高这一常见发现。在SLC16A2改变的患者中未观察到明确的基因型-表型相关性。